MME
The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]
Full Name
Membrane Metalloendopeptidase
Function
Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:8168535).
Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991).
Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675).
Involved in the degradation of atrial natriuretic factor (ANF) and brain natriuretic factor (BNP(1-32)) (PubMed:2531377, PubMed:2972276, PubMed:16254193).
Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573).
Biological Process
Aging Source: ARUK-UCL
Amyloid-beta clearance Source: ARUK-UCL
Amyloid-beta clearance by cellular catabolic process Source: ARUK-UCL
Amyloid-beta metabolic process Source: UniProtKB
Cellular response to cytokine stimulus Source: UniProtKB
Cellular response to UV-A Source: UniProtKB
Cellular response to UV-B Source: UniProtKB
Creatinine metabolic process Source: UniProtKB
Kidney development Source: UniProtKB
Learning or memory Source: ARUK-UCL
Lung development Source: Ensembl
Neuropeptide processing Source: ARUK-UCL
Peptide metabolic process Source: UniProtKB
Placenta development Source: Ensembl
Positive regulation of long-term synaptic potentiation Source: Ensembl
Positive regulation of neurogenesis Source: ARUK-UCL
Protein processing Source: GO_Central
Proteolysis Source: UniProtKB
Replicative senescence Source: UniProtKB
Sensory perception of pain Source: UniProtKB
Cellular Location
Cell membrane
Involvement in disease
Charcot-Marie-Tooth disease 2T (CMT2T):
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Spinocerebellar ataxia 43 (SCA43):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA43 is a slowly progressive, autosomal dominant form.
Topology
Cytoplasmic: 2-28
Helical: 29-51
Extracellular: 52-750
PTM
Myristoylation is a determinant of membrane targeting.
Glycosylation at Asn-628 is necessary both for surface expression and neutral endopeptidase activity.
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Datasheet